Product Details

SNP ID

rs200233020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:77475627 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTGGCCTCCTGCAACTGTGCTA[C/G]GTACTCCTCCTCCAGGGGGTTGTCG

Phenotype

MIM: 608466 MIM: 612684

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AHSA1 PubMed Links

Gene Details

Gene

AHSA1

Gene Name

activator of Hsp90 ATPase activity 1

There are no transcripts associated with this gene.

Gene

ISM2

Gene Name

isthmin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182509.3	1648	UTR 3			NP_872315.2
NM_199296.2	1648	Missense Mutation	CTA,GTA	L562V	NP_954993.1
XM_011536489.1	1648	Missense Mutation	CTA,GTA	L474V	XP_011534791.1

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